Gene
tbx4
- ID
- ZDB-GENE-991124-5
- Name
- T-box transcription factor 4
- Symbol
- tbx4 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II activating transcription factor binding activity; and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in embryonic hindlimb morphogenesis and embryonic pelvic fin morphogenesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in ischiocoxopodopatellar syndrome. Is expressed in diencephalon; mesoderm pelvic fin bud; pelvic fin bud; presumptive neural retina; and retina. Orthologous to human TBX4 (T-box transcription factor 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
ischiocoxopodopatellar syndrome | Alliance | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | 147891 |
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome | 601360 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018186 | Transcription factor, T-box, conserved site |
Domain | IPR046360 | T-box transcription factor, DNA-binding domain |
Family | IPR001699 | T-box transcription factor |
Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
Homologous_superfamily | IPR036960 | T-box superfamily |
Domain Details Per Protein
Protein | Length | p53-like transcription factor, DNA-binding domain superfamily | T-box superfamily | T-box transcription factor | T-box transcription factor, DNA-binding domain | Transcription factor, T-box, conserved site |
---|---|---|---|---|---|---|
UniProtKB:F1R688
|
543 |
Interactions and Pathways
No data available
Plasmids